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Publication : Expression of lipoprotein lipase gene in combined lipase deficiency.

First Author  Oka K Year  1989
Journal  Biochim Biophys Acta Volume  1008
Issue  3 Pages  351-4
PubMed ID  2474325 Mgi Jnum  J:9908
Mgi Id  MGI:58365 Doi  10.1016/0167-4781(89)90027-4
Citation  Oka K, et al. (1989) Expression of lipoprotein lipase gene in combined lipase deficiency [published erratum appears in Biochim Biophys Acta 1989 Nov 2;1009(2):199]. Biochim Biophys Acta 1008(3):351-4
abstractText  The expression of the gene for lipoprotein lipase (LPL) was studied in brown adipose tissue and the liver of combined lipase deficient (cld/cld) and unaffected mice. The mRNA specific for LPL was detected in both animals. Although the size of LPL mRNA in cld mice was similar to that of unaffected mice, the mRNA concentration in affected animals was higher than in unaffected animals. We also studied the LPL gene mutation in cld mice by Southern blot analysis. No restriction fragment length polymorphisms were observed after digestion with 16 endonucleases. These data indicate that there is no gene insertion or deletion, but do not exclude the possibility of point mutation in the LPL structural gene. However, the present results agree with the hypothesis that the genetic defect in cld is not due to a mutation in the LPL structural gene, but instead involves the defective post-translational processing of LPL or defective cellular function affecting transport and secretion of this enzyme group.
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